Canonical Allele Identifier: CA472414104

Gene: TH

Linked Data

• ClinVar Variation Id: 1623727
• ClinVar RCV Id: RCV002110277
• dbSNP Id: rs1229760285
• gnomAD v2: 11-2187933-G-A
• gnomAD v4: 11-2166703-G-A
• MyVariant Identifiers: chr11:g.2187933G>A (hg19) ; chr11:g.2166703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166703G>A , CM000673.2:g.2166703G>A	GRCh38
NC_000011.9:g.2187933G>A , CM000673.1:g.2187933G>A	GRCh37
NC_000011.8:g.2144509G>A	NCBI36
NG_008128.1:g.10103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.907C>T MANE Select	ENSP00000325951.4:p.Leu303=
ENST00000324155.8:c.*596C>T	ENSP00000325831.3:n.*596C>T
ENST00000333684.9:c.696-154C>T	ENSP00000328814.6:n.696-154C>T
ENST00000352909.7:c.907C>T	ENSP00000325951.3:p.Leu303=
ENST00000381168.7:c.*627C>T	ENSP00000370560.3:n.*627C>T
ENST00000381175.5:c.988C>T	ENSP00000370567.1:p.Leu330=
ENST00000381178.5:c.1000C>T	ENSP00000370571.1:p.Leu334=
ENST00000412076.1:c.136-154C>T
ENST00000416223.5:c.201C>T
ENST00000461172.1:n.72C>T
ENST00000479437.5:n.456C>T
NM_000360.3:c.907C>T	NP_000351.2:p.Leu303=
NM_199292.2:c.1000C>T	NP_954986.2:p.Leu334=
NM_199293.2:c.988C>T	NP_954987.2:p.Leu330=
XM_011520335.1:c.919C>T	XP_011518637.1:p.Leu307=
XM_011520335.2:c.919C>T	XP_011518637.1:p.Leu307=
NM_000360.4:c.907C>T MANE Select	NP_000351.2:p.Leu303=
NM_199292.3:c.1000C>T	NP_954986.2:p.Leu334=
NM_199293.3:c.988C>T	NP_954987.2:p.Leu330=